Krabbe disease is classified in four types or forms, depending on when symptoms first appear. Early Infantile Krabbe Disease (EIKD) for onset up to 12 months, Late Infantile Krabbe Disease (LIKD) for onset 13 to 36 months, Juvenile Onset Krabbe Disease (JOKD) for onset 4 to 18 years, and Adult Onset Krabbe Disease (AOKD) for onset after 19 years.
Early Infantile Krabbe Disease (EIKD)
Onset of symptoms: 0 – 12 months
Early Infantile Krabbe Disease (EIKD) is the most severe form affecting ~85-90% of all cases.1 As with many lysosomal storage disorders, babies may appear normal for the first few months of life and then begin to develop noticeable symptoms. The onset of symptoms of the Infantile form appears clinically between 0 to 12 months of age. Learn more about EIKD symptoms diagnosis and treatment.
Some of the key characteristics associated with Infantile Krabbe disease are:
- Extreme irritability; above and beyond colic
- Sensitivity to sound; easily startles
- Severe acid reflux; appears to not keep a majority of feedings down
- Significant decrease in daily consumption of formula/breast milk
- Loss of milestones; no longer tracks objects or giggles
Late Infantile Krabbe Disease (LIKD)
Onset of symptoms: 13 – 36 months
Symptoms of the Late Infantile Krabbe Disease (LIKD) usually present between 13 and 36 months of age. Some early symptoms may present with vision disturbances, slurred speech, abnormal gait and loss of previously achieved milestones. Some patients may be diagnosed with this form through a state Newborn Screening Program. These patients will be monitored closely by Krabbe disease experts as to when treatments options should occur. Learn more about diagnosis, treatment and care of LIKD.
Juvenile Onset Krabbe Disease (JOKD)
Onset of symptoms: 4 – 18 years
In a relatively small number of patients, Krabbe disease does not appear until later in childhood or adolescence (between 4 to 18 years of age). The onset of symptoms can present quickly or slowly over time. There is also a variable rate at which the disorder progresses. Learn more about diagnosis, treatment and care of JOKD.
The clinical symptoms of Juvenile Onset Krabbe Disease are quite varied but some notable characteristics are as follows:
- Loss of manual dexterity and fine-motor skills; unable to button a shirt
- Peripheral neuropathy; complaints about tingling or burning sensation in hands or feet
- Lower limb weakness; appears to trip over their feet or fall more
- Deceased mental acuity; trouble remembering people’s names or simple words
Adult Onset Krabbe Disease (AOKD)
Onset of symptoms: 19+ years
Adult Onset Krabbe disease (referred to as AOKD) is described as presenting in adults aged 19 and older. The onset of symptoms usually progresses slowly over time. In fact, many adults are often misdiagnosed or experience symptoms for a long time without a formal diagnosis. Learn more about diagnosis, treatment and care of AOKD.
The clinical symptoms of Adult Onset Krabbe Disease are quite varied but some notable characteristics are as follows:
- Loss of manual dexterity and fine-motor skills; unable to button a shirt
- Peripheral neuropathy; complaints about tingling or burning sensation in hands or feet
- Lower limb weakness; appears to trip over their feet or fall more
- Deceased mental acuity; trouble remembering people’s names or simple words
If you are newly diagnosed with Krabbe disease, please reach out to KrabbeConnect’s Patient Engagement Advocate on our toll free number 1 (800) 800-5509.
1 Wenger DA. Krabbe Disease. 2000 Jun 19 [Updated 2011 Mar 31]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.